DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs1114167583	APC	5	112839342	frameshift variant	AA/-	delins	1
rs1114167584	APC	5	112837723	frameshift variant	T/-	del	1
rs1114167586	APC	5	112838594	frameshift variant	C/-	delins	1
rs1114167587	APC	5	112840329	frameshift variant	-/T	delins	1
rs1114167589	APC	5	112839056	frameshift variant	GAAGA/-	delins	1
rs1114167592	APC	5	112828972	missense variant	G/C	snv	1
rs1114167593	APC	5	112754994	frameshift variant	C/-	del	1
rs1114167595	APC	5	112839324	frameshift variant	-/A	delins	1
rs1114167596	APC	5	112840143	stop gained	C/T	snv	1
rs1114167597	APC	5	112837562	frameshift variant	AA/-	del	1
rs1114167601	APC	5	112840237	frameshift variant	ACC/T	delins	1
rs1114167602	APC	5	112827161	frameshift variant	TACT/-	delins	1
rs1114167603	APC	5	112838671	missense variant	A/C	snv	1
rs1114167604	APC	5	112843641	frameshift variant	A/-	del	1
rs1114167606	APC	5	112840483	frameshift variant	T/-	delins	1
rs1114167607	APC	5	112819283	stop gained	T/A	snv	1
rs1114167608	APC	5	112801310	frameshift variant	-/A	delins	1
rs1114167609	APC	5	112838893	frameshift variant	-/T	delins	1
rs1114167613	APC	5	112827997	frameshift variant	C/TGT	delins	1
rs1114167614	APC	5	112839259	stop gained	C/A	snv	1
rs1114167616	APC	5	112838978	frameshift variant	T/-	delins	1
rs1114167617	APC	5	112838677	missense variant	G/A;T	snv	1
rs1131691136	APC	5	112838026	frameshift variant	GACA/-	delins	1
rs1131691137	APC	5	112827182	frameshift variant	-/T	delins	1
rs1131691139	APC	5	112838499	frameshift variant	-/C	ins	1